Canonical Allele Identifier: CA500450683

Gene: TBX21

Linked Data

• dbSNP Id: rs2032308568
• gnomAD v4: 17-47744754-C-T
• MyVariant Identifiers: chr17:g.45822120C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47744754C>T , CM000679.2:g.47744754C>T	GRCh38
NC_000017.10:g.45822120C>T , CM000679.1:g.45822120C>T	GRCh37
NC_000017.9:g.43177119C>T	NCBI36
NG_012166.1:g.16511C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000177694.2:c.996C>T MANE Select	ENSP00000177694.1:p.Tyr332=
ENST00000177694.1:c.996C>T	ENSP00000177694.1:p.Tyr332=
NM_013351.1:c.996C>T	NP_037483.1:p.Tyr332=
XM_011524698.1:c.1059C>T	XP_011523000.1:p.Tyr353=
XM_011524699.1:c.663C>T	XP_011523001.1:p.Tyr221=
NM_013351.2:c.996C>T MANE Select	NP_037483.1:p.Tyr332=